coloboma

Summary
Synonym
  • coloboma of eye
  • coloboma of macula
  • congenital ocular coloboma
Definition
An eye disease characterized by missing pieces of tissue in structures that form the eye, such as the iris, retina, choroid or optic disc.
Super Class
eye disease
Disease Ontology
DOID:12270
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
6297 SALL2 spalt like transcription factor 2
91147 TMEM67 transmembrane protein 67
Related Glycoprotein
Displaying all 2 entries
UniProt ID Protein Name Source
Q5HYA8 Meckelin
Q9Y467 Sal-like protein 2
Displaying 1 entry
UniProt ID Protein Name Source
Q98864 Protein patched homolog 1

About Release Notes Help Feedback

Click here to visit the beta site.


International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.2.0

Last updated: March 31, 2025